Autosomal Dominant Polycystic Kidney Disease (ADPKD)

Autosomal Recessive Polycystic Kidney Disease (ARPKD) is a rare inherited disorder that primarily affects newborns and young children. It occurs due to mutations in the PKHD1 gene, which is responsible for producing fibrocystin, a protein crucial for normal kidney and liver function. The disease leads to the development of numerous small cysts in the renal tubules, causing the kidneys to become enlarged and lose their ability to filter waste effectively.

In addition to kidney involvement, ARPKD often affects the liver, resulting in fibrosis and bile duct abnormalities, collectively known as congenital hepatic fibrosis. Symptoms may include high blood pressure, abdominal swelling, frequent urinary tract infections, and impaired growth in children. In severe cases, newborns may experience respiratory distress due to enlarged kidneys pressing on the lungs.

Diagnosis is typically confirmed through ultrasound, MRI, or genetic testing. While there is no definitive cure, management focuses on controlling symptoms, maintaining kidney function, and addressing liver complications. In advanced stages, dialysis or kidney transplantation may be necessary. Early diagnosis and multidisciplinary care play a vital role in improving quality of life and long-term outcomes for affected children.